Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.18 | QSOX2 |
Achchuthan Shanmugasundram gene: QSOX2 was added gene: QSOX2 was added to Monogenic short stature. Sources: Literature Mode of inheritance for gene: QSOX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QSOX2 were set to 39341815 Phenotypes for gene: QSOX2 were set to Maharaj Storr Syndrome Review for gene: QSOX2 was set to AMBER Added comment: PMID:39341815 reported five patients from three unrelated families presenting with short stature, immune dysfunction, atopic eczema and gastrointestinal dysmotility. They were identified with biallelic QSOX2 variants via whole exome/genome sequencing. A total of six different variants were identified from these patients. Although all five patients were reported with short stature, only the twins from family 1 had height < -3 SD below mean for the age. Recurrent respiratory infections and atopic eczema was reported in four patients from three families, while this was absent in the father of family 2. Low IgM levels and abnormalities in some other immunological markers were only reported in twins from family 1. There is also functional evidence available. Patient-derived fibroblasts showed defective STAT5B nuclear translocation despite enhanced phosphorylation, and demonstrated growth hormone-induced mitochondriopathy and reduced mitochondrial membrane potential. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.63 | STAT5B | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.63 | STAT5B |
Arina Puzriakova gene: STAT5B was added gene: STAT5B was added to Monogenic short stature. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: STAT5B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: STAT5B were set to 16787985; 15827093; 17030597; 26703237; 29844444 Phenotypes for gene: STAT5B were set to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||